Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies
ABSTRACT The enzyme glutamic acid decarboxylase (GAD), present in GABAergic neurons and in pancreatic beta cells, catalyzes the conversion of gamma-aminobutyric acid (GABA). The cerebellum is highly susceptible to immune-mediated mechanisms, with the potentially treatable autoimmune cerebellar ataxi...
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| Format: | Article |
| Language: | English |
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Academia Brasileira de Neurologia (ABNEURO)
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| Series: | Arquivos de Neuro-Psiquiatria |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2017000300142&lng=en&tlng=en |
| _version_ | 1819090214349438976 |
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| author | Tiago Silva Aguiar Andrea Fragoso Carolina Rouanet de Albuquerque Patrícia de Fátima Teixeira Marcus Vinícius Leitão de Souza Lenita Zajdenverg Soniza Vieira Alves-Leon Melanie Rodacki Marco Antônio Sales Dantas de Lima |
| author_facet | Tiago Silva Aguiar Andrea Fragoso Carolina Rouanet de Albuquerque Patrícia de Fátima Teixeira Marcus Vinícius Leitão de Souza Lenita Zajdenverg Soniza Vieira Alves-Leon Melanie Rodacki Marco Antônio Sales Dantas de Lima |
| author_sort | Tiago Silva Aguiar |
| collection | DOAJ |
| description | ABSTRACT The enzyme glutamic acid decarboxylase (GAD), present in GABAergic neurons and in pancreatic beta cells, catalyzes the conversion of gamma-aminobutyric acid (GABA). The cerebellum is highly susceptible to immune-mediated mechanisms, with the potentially treatable autoimmune cerebellar ataxia associated with the GAD antibody (CA-GAD-ab) being a rare, albeit increasingly detected condition. Few cases of CA-GAD-ab have been described. Methods This retrospective and descriptive study evaluated the clinical characteristics and outcomes of patients with CA-GAD-ab. Result Three patients with cerebellar ataxia, high GAD-ab titers and autoimmune endocrine disease were identified. Patients 1 and 2 had classic stiff person syndrome and insidious-onset cerebellar ataxia, while Patient 3 had pure cerebellar ataxia with subacute onset. Patients received intravenous immunoglobulin therapy with no response in Patients 1 and 3 and partial recovery in Patient 2. Conclusion CA-GAD-ab is rare and its clinical presentation may hamper diagnosis. Clinicians should be able to recognize this potentially treatable autoimmune cerebellar ataxia. |
| first_indexed | 2024-12-21T22:20:16Z |
| format | Article |
| id | doaj.art-14bd24039b284c9e85416c3b81bd4fd7 |
| institution | Directory Open Access Journal |
| issn | 1678-4227 |
| language | English |
| last_indexed | 2024-12-21T22:20:16Z |
| publisher | Academia Brasileira de Neurologia (ABNEURO) |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj.art-14bd24039b284c9e85416c3b81bd4fd72022-12-21T18:48:21ZengAcademia Brasileira de Neurologia (ABNEURO)Arquivos de Neuro-Psiquiatria1678-422775314214610.1590/0004-282x20170011S0004-282X2017000300142Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodiesTiago Silva AguiarAndrea FragosoCarolina Rouanet de AlbuquerquePatrícia de Fátima TeixeiraMarcus Vinícius Leitão de SouzaLenita ZajdenvergSoniza Vieira Alves-LeonMelanie RodackiMarco Antônio Sales Dantas de LimaABSTRACT The enzyme glutamic acid decarboxylase (GAD), present in GABAergic neurons and in pancreatic beta cells, catalyzes the conversion of gamma-aminobutyric acid (GABA). The cerebellum is highly susceptible to immune-mediated mechanisms, with the potentially treatable autoimmune cerebellar ataxia associated with the GAD antibody (CA-GAD-ab) being a rare, albeit increasingly detected condition. Few cases of CA-GAD-ab have been described. Methods This retrospective and descriptive study evaluated the clinical characteristics and outcomes of patients with CA-GAD-ab. Result Three patients with cerebellar ataxia, high GAD-ab titers and autoimmune endocrine disease were identified. Patients 1 and 2 had classic stiff person syndrome and insidious-onset cerebellar ataxia, while Patient 3 had pure cerebellar ataxia with subacute onset. Patients received intravenous immunoglobulin therapy with no response in Patients 1 and 3 and partial recovery in Patient 2. Conclusion CA-GAD-ab is rare and its clinical presentation may hamper diagnosis. Clinicians should be able to recognize this potentially treatable autoimmune cerebellar ataxia.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2017000300142&lng=en&tlng=enautoimmunitycerebellar ataxiadiabetes mellitus |
| spellingShingle | Tiago Silva Aguiar Andrea Fragoso Carolina Rouanet de Albuquerque Patrícia de Fátima Teixeira Marcus Vinícius Leitão de Souza Lenita Zajdenverg Soniza Vieira Alves-Leon Melanie Rodacki Marco Antônio Sales Dantas de Lima Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies Arquivos de Neuro-Psiquiatria autoimmunity cerebellar ataxia diabetes mellitus |
| title | Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies |
| title_full | Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies |
| title_fullStr | Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies |
| title_full_unstemmed | Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies |
| title_short | Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies |
| title_sort | clinical characteristics of patients with cerebellar ataxia associated with anti gad antibodies |
| topic | autoimmunity cerebellar ataxia diabetes mellitus |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2017000300142&lng=en&tlng=en |
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